BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

112 related articles for article (PubMed ID: 31270756)

  • 1. Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.
    Owczarek-Lipska M; Mulahasanovic L; Obermaier CD; Hörtnagel K; Neubauer BA; Korenke GC; Biskup S; Neidhardt J
    Mol Biol Rep; 2019 Aug; 46(4):4507-4516. PubMed ID: 31270756
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel pathologic findings in patients with Pelizaeus-Merzbacher disease.
    Laukka JJ; Kamholz J; Bessert D; Skoff RP
    Neurosci Lett; 2016 Aug; 627():222-32. PubMed ID: 27222925
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel
    Margraf RL; Durtschi J; Krock B; Newcomb TM; Bonkowsky JL; Voelkerding KV; Bayrak-Toydemir P; Lutz RE; Swoboda KJ
    Child Neurol Open; 2018; 5():2329048X18789282. PubMed ID: 30046645
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Generation of Pelizaeus-Merzbacher disease (PMD) mutant (PLP1-C33Y) in induced pluripotent stem cell (iPSC) by CRISPR/Cas9 genome editing.
    Schreiber MK; Zafeiriou MP
    Stem Cell Res; 2024 Feb; 74():103276. PubMed ID: 38104430
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A
    Siori D; Vlachakis D; Makrythanasis P; Traeger-Synodinos J; Veltra D; Kampouraki A; Chrousos GP
    Genes (Basel); 2024 Apr; 15(5):. PubMed ID: 38790154
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The natural history of Pelizaeus-Merzbacher disease caused by PLP1 duplication: A multiyear case series.
    Trepanier AM; Aguilar S; Kamholz J; Laukka JJ
    Clin Case Rep; 2023 Sep; 11(9):e7814. PubMed ID: 37636890
    [TBL] [Abstract][Full Text] [Related]  

  • 7. An Open-Label Administration of Bioavailable-Form Curcumin in Patients With Pelizaeus-Merzbacher Disease.
    Yamamoto A; Shimizu-Motohashi Y; Ishiyama A; Kurosawa K; Sasaki M; Sato N; Osaka H; Takanashi JI; Inoue K
    Pediatr Neurol; 2024 Feb; 151():80-83. PubMed ID: 38134864
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A loss of function mutation in CLDN25 causing Pelizaeus-Merzbacher-like leukodystrophy.
    Hashimoto Y; Besmond C; Boddaert N; Munnich A; Campbell M
    Hum Mol Genet; 2024 Jun; 33(12):1055-1063. PubMed ID: 38493358
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.
    De Pace R; Maroofian R; Paimboeuf A; Zamani M; Zaki MS; Sadeghian S; Azizimalamiri R; Galehdari H; Zeighami J; Williamson CD; Fleming E; Zhou D; Gannon JL; Thiffault I; Roze E; Suri M; Zifarelli G; Bauer P; Houlden H; Severino M; Patten SA; Farrow E; Bonifacino JS
    Brain; 2024 May; 147(5):1751-1767. PubMed ID: 38128568
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Pelizaeus-Merzbacher disease can be a differential diagnosis in males presenting with severe neonatal respiratory distress and hypotonia.
    Ueda A; Shimbo H; Yada Y; Koike Y; Yamagata T; Osaka H
    Hum Genome Var; 2018; 5():18013. PubMed ID: 29619238
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms.
    van der Knaap MS; Bugiani M
    Acta Neuropathol; 2017 Sep; 134(3):351-382. PubMed ID: 28638987
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Expansion of the phenotypic spectrum associated with pathogenic missense variation in DHX16.
    Drackley A; De Simone L; Kuntz N; Rahmani S; Ing A; Rao VK; Rathbun P; Yap KL
    Am J Med Genet A; 2024 Jan; 194(1):53-58. PubMed ID: 37664979
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A Hypomorphic
    Fröhlich D; Mendes MI; Kueh AJ; Bongers A; Herold MJ; Salomons GS; Housley GD; Klugmann M
    Front Cell Neurosci; 2020; 14():625879. PubMed ID: 33551752
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Late-onset phenotype associated with a homozygous GJC2 missense mutation in a Turkish family.
    Kuipers DJS; Tufekcioglu Z; Bilgiç B; Olgiati S; Dremmen MHG; van IJcken WFJ; Breedveld GJ; Mancini GMS; Hanagasi HA; Emre M; Bonifati V
    Parkinsonism Relat Disord; 2019 Sep; 66():228-231. PubMed ID: 31431325
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Description of Phenotypic Heterogeneity in a
    Ghasemi A; Tavasoli AR; Khojasteh M; Rohani M; Alavi A
    Mol Syndromol; 2023 Oct; 14(5):405-415. PubMed ID: 37915394
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47.
    Abrams CK
    Biomolecules; 2023 Apr; 13(4):. PubMed ID: 37189458
    [TBL] [Abstract][Full Text] [Related]  

  • 17.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 18.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 19.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 6.